A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470128



Internal ID247899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12396594..12398554hg38UCSC Ensembl
chr6:12396826..12398786hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg381961
hg191961
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16979105
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470128
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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